ClinVar Miner

List of variants in gene OPA1 reported by GeneDx

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 299
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HGVS dbSNP gnomAD frequency
NM_130837.3(OPA1):c.1035+4T>C rs166850 0.88294
NM_130837.3(OPA1):c.844-135G>A rs3736198 0.50229
NM_130837.3(OPA1):c.473G>A (p.Ser158Asn) rs7624750 0.50224
NM_130837.3(OPA1):c.556+178G>T rs10937593 0.50218
NM_130837.3(OPA1):c.678+296G>A rs9817704 0.50214
NM_130837.3(OPA1):c.2274T>C (p.Ala758=) rs9851685 0.50117
NM_130837.3(OPA1):c.2983+207A>G rs13070610 0.49446
NM_130837.3(OPA1):c.2779-142T>C rs10937594 0.47278
NM_130837.3(OPA1):c.1609-179G>A rs2291373 0.46997
NM_130837.3(OPA1):c.1035+32T>C rs10451941 0.44363
NM_130837.3(OPA1):c.611-233T>C rs9832709 0.43335
NM_130837.3(OPA1):c.449-121A>G rs7646539 0.43321
NM_130837.3(OPA1):c.679-120C>G rs6791301 0.43277
NM_130837.3(OPA1):c.1478-147C>T rs1016226 0.43267
NM_130837.3(OPA1):c.1608+295G>A rs11916478 0.42975
NM_130837.3(OPA1):c.2983+206C>T rs13070791 0.42899
NM_130837.3(OPA1):c.2872+25T>A rs10937595 0.42744
NM_130837.3(OPA1):c.2441-234G>A rs28457829 0.42710
NM_130837.3(OPA1):c.1754+265A>G rs115569671 0.22318
NM_130837.3(OPA1):c.2984-126T>C rs35661865 0.12197
NM_130837.3(OPA1):c.2441-98T>C rs34558265 0.11790
NM_130837.3(OPA1):c.1754+106G>A rs34222475 0.11760
NM_130837.3(OPA1):c.2332-323G>A rs71316211 0.11744
NM_130837.3(OPA1):c.1935+16T>G rs9831772 0.07649
NM_130837.3(OPA1):c.1609-75T>C rs77539393 0.07331
NM_130837.3(OPA1):c.1608+23G>A rs77303706 0.06432
NM_130837.3(OPA1):c.2178+253C>G rs76855292 0.06098
NM_130837.3(OPA1):c.2872+178C>T rs11928971 0.05948
NM_130837.3(OPA1):c.2179-81G>T rs75116447 0.03783
NM_130837.3(OPA1):c.2661+306C>T rs79665962 0.03765
NM_130837.3(OPA1):c.2778+11C>G rs111688935 0.03759
NM_130837.3(OPA1):c.2984-250G>A rs6776228 0.03582
NM_130837.3(OPA1):c.2983+23T>C rs77034068 0.03253
NM_130837.3(OPA1):c.844-279G>A rs3736197 0.03062
NM_130837.3(OPA1):c.1478-141G>A rs112831553 0.03060
NM_130837.3(OPA1):c.449-21A>G rs75213840 0.02640
NM_130837.3(OPA1):c.790-286T>C rs75119504 0.02638
NM_130837.3(OPA1):c.351+180A>G rs75414244 0.02637
NM_130837.3(OPA1):c.32+286C>T rs6781575 0.02625
NM_130837.3(OPA1):c.1035+37A>C rs76253392 0.02623
NM_130837.3(OPA1):c.629C>T (p.Ala210Val) rs34307082 0.02411
NM_130837.3(OPA1):c.1935+281A>G rs76514410 0.02052
NM_130837.3(OPA1):c.351+275G>C rs116457270 0.01710
NM_130837.3(OPA1):c.2983+128C>T rs112787334 0.01207
NM_130837.3(OPA1):c.2331+115G>T rs150732301 0.01129
NM_130837.3(OPA1):c.1871-66C>A rs73888660 0.01075
NM_130837.3(OPA1):c.1935+47T>A rs144015601 0.00834
NM_130837.3(OPA1):c.2961C>T (p.Arg987=) rs35540805 0.00758
NM_130837.3(OPA1):c.2332-265T>G rs12635939 0.00755
NM_130837.3(OPA1):c.2779-149T>C rs74450886 0.00754
NM_130837.3(OPA1):c.2049A>G (p.Val683=) rs73069703 0.00753
NM_130837.3(OPA1):c.678+235T>C rs73067661 0.00744
NM_130837.3(OPA1):c.2973G>A (p.Ala991=) rs117475774 0.00742
NM_130837.3(OPA1):c.1477+32A>G rs116806904 0.00724
NM_130837.3(OPA1):c.1231-53T>G rs2306720 0.00723
NM_130837.3(OPA1):c.2778+258A>T rs58859883 0.00722
NM_130837.3(OPA1):c.1150-161A>G rs57034161 0.00614
NM_130837.3(OPA1):c.1306-109A>T rs115482686 0.00610
NM_130837.3(OPA1):c.1608+290C>G rs59046055 0.00607
NM_130837.3(OPA1):c.679-8C>T rs114348597 0.00589
NM_130837.3(OPA1):c.420G>T (p.Val140=) rs35801538 0.00577
NM_130837.3(OPA1):c.1306-55T>A rs139613408 0.00574
NM_130837.3(OPA1):c.1149+178G>A rs139627835 0.00548
NM_130837.3(OPA1):c.1377+38A>T rs145646386 0.00532
NM_130837.3(OPA1):c.2779-290A>G rs149979555 0.00501
NM_130837.3(OPA1):c.1035+324G>A rs115055890 0.00477
NM_130837.3(OPA1):c.2441-134G>C rs375372517 0.00450
NM_130837.3(OPA1):c.1608+138G>A rs4638913 0.00417
NM_130837.3(OPA1):c.843+274A>G rs142161446 0.00416
NM_130837.3(OPA1):c.1342A>C (p.Arg448=) rs149752576 0.00229
NM_130837.3(OPA1):c.43C>A (p.Gln15Lys) rs75414918 0.00229
NM_130837.3(OPA1):c.321G>A (p.Ser107=) rs117888848 0.00212
NM_130837.3(OPA1):c.2179-23T>C rs76076252 0.00205
NM_130837.3(OPA1):c.2179-24T>G rs78911544 0.00205
NM_130837.3(OPA1):c.1236A>G (p.Ala412=) rs150807064 0.00179
NM_130837.3(OPA1):c.2872+15G>C rs199763700 0.00136
NM_130837.3(OPA1):c.239A>G (p.Tyr80Cys) rs151103940 0.00116
NM_130837.3(OPA1):c.2880A>G (p.Arg960=) rs144898877 0.00109
NM_130837.3(OPA1):c.610+33A>T rs79606277 0.00106
NM_130837.3(OPA1):c.85C>G (p.Pro29Ala) rs145565705 0.00103
NM_130837.3(OPA1):c.949-11A>C rs376681712 0.00094
NM_130837.3(OPA1):c.748G>A (p.Ala250Thr) rs143918255 0.00085
NM_130837.3(OPA1):c.254G>A (p.Arg85His) rs35630194 0.00068
NM_130837.3(OPA1):c.1311A>G (p.Ile437Met) rs143319805 0.00056
NM_130837.3(OPA1):c.32+14C>T rs201927764 0.00054
NM_130837.3(OPA1):c.1302T>G (p.Pro434=) rs139861334 0.00050
NM_130837.3(OPA1):c.2610C>T (p.Thr870=) rs139934030 0.00042
NM_130837.3(OPA1):c.2421G>T (p.Leu807=) rs148047706 0.00041
NM_130837.3(OPA1):c.2984-4A>G rs184273607 0.00039
NM_130837.3(OPA1):c.1378-25G>C rs148392527 0.00034
NM_130837.3(OPA1):c.222A>T (p.Lys74Asn) rs114157340 0.00029
NM_130837.3(OPA1):c.921C>T (p.Asp307=) rs147242797 0.00029
NM_130837.3(OPA1):c.2088G>A (p.Ala696=) rs138114609 0.00028
NM_130837.3(OPA1):c.653C>T (p.Ser218Phe) rs200243596 0.00022
NM_130837.3(OPA1):c.3027A>C (p.Glu1009Asp) rs189036094 0.00021
NM_130837.3(OPA1):c.2592T>C (p.Leu864=) rs145999595 0.00020
NM_130837.3(OPA1):c.2441-4dup rs761286590 0.00019
NM_130837.3(OPA1):c.88C>T (p.Leu30=) rs185976555 0.00019
NM_130837.3(OPA1):c.1700T>C (p.Ile567Thr) rs148834015 0.00018
NM_130837.3(OPA1):c.2506C>T (p.Arg836Trp) rs190235251 0.00017
NM_130837.3(OPA1):c.70A>G (p.Ile24Val) rs201520438 0.00017
NM_130837.3(OPA1):c.1293C>T (p.Thr431=) rs111488647 0.00016
NM_130837.3(OPA1):c.530G>T (p.Ser177Ile) rs150279202 0.00016
NM_130837.3(OPA1):c.344C>T (p.Ala115Val) rs200983556 0.00013
NM_130837.3(OPA1):c.790-4T>A rs374509936 0.00009
NM_130837.3(OPA1):c.2636G>A (p.Arg879Gln) rs200412464 0.00008
NM_130837.3(OPA1):c.2319G>A (p.Ala773=) rs144690080 0.00007
NM_130837.3(OPA1):c.1377+10T>C rs200114656 0.00006
NM_130837.3(OPA1):c.1877G>A (p.Arg626His) rs140606054 0.00006
NM_130837.3(OPA1):c.1934G>A (p.Arg645Gln) rs147077380 0.00006
NM_130837.3(OPA1):c.2331+10T>C rs371096629 0.00005
NM_130837.3(OPA1):c.2544T>A (p.Asn848Lys) rs758248456 0.00005
NM_130837.3(OPA1):c.737C>T (p.Ala246Val) rs147094219 0.00005
NM_130837.3(OPA1):c.844-4G>A rs377043223 0.00005
NM_130837.3(OPA1):c.1016C>T (p.Thr339Met) rs141326740 0.00004
NM_130837.3(OPA1):c.1094A>G (p.Gln365Arg) rs770966290 0.00004
NM_130837.3(OPA1):c.2520+13A>G rs371943802 0.00004
NM_130837.3(OPA1):c.253C>T (p.Arg85Cys) rs372435892 0.00004
NM_130837.3(OPA1):c.381G>A (p.Pro127=) rs774996101 0.00004
NM_130837.3(OPA1):c.534A>G (p.Leu178=) rs758901451 0.00004
NM_130837.3(OPA1):c.617C>T (p.Pro206Leu) rs772090345 0.00004
NM_130837.3(OPA1):c.619G>A (p.Glu207Lys) rs569675223 0.00004
NM_130837.3(OPA1):c.1193A>C (p.Asp398Ala) rs756981921 0.00003
NM_130837.3(OPA1):c.187T>A (p.Ser63Thr) rs777179811 0.00003
NM_130837.3(OPA1):c.2045G>A (p.Arg682Lys) rs772040791 0.00003
NM_130837.3(OPA1):c.448+50A>G rs377239493 0.00003
NM_130837.3(OPA1):c.542A>G (p.Asp181Gly) rs138884045 0.00003
NM_130837.3(OPA1):c.1286G>A (p.Gly429Asp) rs146003075 0.00002
NM_130837.3(OPA1):c.1391G>A (p.Gly464Asp) rs752296610 0.00002
NM_130837.3(OPA1):c.1690T>C (p.Ser564Pro) rs1467607281 0.00002
NM_130837.3(OPA1):c.2028A>G (p.Gln676=) rs773826671 0.00002
NM_130837.3(OPA1):c.215A>C (p.Lys72Thr) rs532878175 0.00002
NM_130837.3(OPA1):c.2644G>A (p.Glu882Lys) rs765208285 0.00002
NM_130837.3(OPA1):c.2812A>G (p.Ile938Val) rs149866497 0.00002
NM_130837.3(OPA1):c.2962G>A (p.Val988Ile) rs375733283 0.00002
NM_130837.3(OPA1):c.305A>G (p.Tyr102Cys) rs530896300 0.00002
NM_130837.3(OPA1):c.740G>A (p.Arg247His) rs138350727 0.00002
NM_130837.3(OPA1):c.964A>G (p.Met322Val) rs938874214 0.00002
NM_130837.3(OPA1):c.*5+1G>T rs1250028962 0.00001
NM_130837.3(OPA1):c.*6-13T>C rs1243357575 0.00001
NM_130837.3(OPA1):c.-10C>T rs775614028 0.00001
NM_130837.3(OPA1):c.1100G>A (p.Arg367Gln) rs372878876 0.00001
NM_130837.3(OPA1):c.1135C>T (p.Arg379Cys) rs552243068 0.00001
NM_130837.3(OPA1):c.113G>A (p.Arg38Gln) rs866025924 0.00001
NM_130837.3(OPA1):c.1150-2A>G rs886041317 0.00001
NM_130837.3(OPA1):c.1168C>T (p.Pro390Ser) rs1057524630 0.00001
NM_130837.3(OPA1):c.1176T>C (p.His392=) rs372782168 0.00001
NM_130837.3(OPA1):c.1262G>A (p.Arg421Gln) rs535885178 0.00001
NM_130837.3(OPA1):c.1347G>A (p.Met449Ile) rs377726977 0.00001
NM_130837.3(OPA1):c.1377+9A>G rs759086025 0.00001
NM_130837.3(OPA1):c.2006A>T (p.Lys669Ile) rs146601330 0.00001
NM_130837.3(OPA1):c.2012+7A>G rs767488490 0.00001
NM_130837.3(OPA1):c.205C>G (p.Pro69Ala) rs750775588 0.00001
NM_130837.3(OPA1):c.212G>A (p.Arg71His) rs766106312 0.00001
NM_130837.3(OPA1):c.2168A>C (p.Lys723Thr) rs1713442826 0.00001
NM_130837.3(OPA1):c.2193C>G (p.Thr731=) rs757675899 0.00001
NM_130837.3(OPA1):c.2212C>T (p.Arg738Cys) rs1714040834 0.00001
NM_130837.3(OPA1):c.2229G>A (p.Pro743=) rs768448865 0.00001
NM_130837.3(OPA1):c.2348A>G (p.Asn783Ser) rs749143995 0.00001
NM_130837.3(OPA1):c.2429G>A (p.Arg810His) rs762258708 0.00001
NM_130837.3(OPA1):c.2617C>T (p.Arg873Trp) rs143252541 0.00001
NM_130837.3(OPA1):c.2618G>A (p.Arg873Gln) rs954754062 0.00001
NM_130837.3(OPA1):c.2729T>G (p.Leu910Arg) rs139106405 0.00001
NM_130837.3(OPA1):c.2983+84C>T rs573137605 0.00001
NM_130837.3(OPA1):c.3017C>G (p.Ala1006Gly) rs577055148 0.00001
NM_130837.3(OPA1):c.464C>T (p.Ala155Val) rs751318725 0.00001
NM_130837.3(OPA1):c.49T>A (p.Leu17Ile) rs760770105 0.00001
NM_130837.3(OPA1):c.517G>A (p.Val173Ile) rs778997114 0.00001
NM_130837.3(OPA1):c.590C>G (p.Ser197Cys) rs1729303601 0.00001
NM_130837.3(OPA1):c.626C>T (p.Thr209Met) rs772596317 0.00001
NM_130837.3(OPA1):c.661G>A (p.Asp221Asn) rs367814426 0.00001
NM_130837.3(OPA1):c.821A>G (p.Gln274Arg) rs1258694003 0.00001
NM_130837.3(OPA1):c.860T>C (p.Ile287Thr) rs951002467 0.00001
NM_130837.3(OPA1):c.89T>C (p.Leu30Pro) rs758056583 0.00001
NM_130837.3(OPA1):c.902T>C (p.Leu301Ser) rs1488795500 0.00001
GRCh37/hg19 3q29(chr3:193331148-193415325)x1
GRCh37/hg19 3q29(chr3:193360287-193360759)x1
NM_130837.3(OPA1):c.-11C>G rs568049951
NM_130837.3(OPA1):c.1006A>C (p.Ser336Arg)
NM_130837.3(OPA1):c.1007G>A (p.Ser336Asn)
NM_130837.3(OPA1):c.1018C>T (p.Gln340Ter) rs1048376563
NM_130837.3(OPA1):c.1019A>C (p.Gln340Pro)
NM_130837.3(OPA1):c.1034G>A (p.Arg345Gln) rs121908375
NM_130837.3(OPA1):c.1035+3A>G
NM_130837.3(OPA1):c.1035+5G>A rs754576717
NM_130837.3(OPA1):c.1036-1G>A rs863224130
NM_130837.3(OPA1):c.1036-6G>A rs1553876585
NM_130837.3(OPA1):c.1036G>C (p.Val346Leu) rs1553876590
NM_130837.3(OPA1):c.1045G>T (p.Val349Phe) rs863224131
NM_130837.3(OPA1):c.1055A>C (p.Gln352Pro) rs2109014902
NM_130837.3(OPA1):c.106G>C (p.Val36Leu)
NM_130837.3(OPA1):c.1126A>G (p.Met376Val) rs863224132
NM_130837.3(OPA1):c.1135C>G (p.Arg379Gly)
NM_130837.3(OPA1):c.113_130del (p.Arg38_Ser43del) rs863224140
NM_130837.3(OPA1):c.1148A>G (p.Lys383Arg) rs398124303
NM_130837.3(OPA1):c.1189A>G (p.Lys397Glu) rs1057517999
NM_130837.3(OPA1):c.1202G>A (p.Arg401Gln) rs1180256773
NM_130837.3(OPA1):c.1228G>T (p.Asp410Tyr)
NM_130837.3(OPA1):c.1288T>C (p.Cys430Arg)
NM_130837.3(OPA1):c.1305+128del rs112385163
NM_130837.3(OPA1):c.1305+128dup rs112385163
NM_130837.3(OPA1):c.1352T>A (p.Leu451His) rs727504060
NM_130837.3(OPA1):c.1373T>C (p.Ile458Thr) rs863224135
NM_130837.3(OPA1):c.1377+5G>T rs863224136
NM_130837.3(OPA1):c.1377+5del rs2109043788
NM_130837.3(OPA1):c.1411G>A (p.Glu471Lys)
NM_130837.3(OPA1):c.1417_1418del (p.Ile473fs)
NM_130837.3(OPA1):c.1466T>C (p.Leu489Pro) rs1553877946
NM_130837.3(OPA1):c.1475A>G (p.Gln492Arg) rs863225277
NM_130837.3(OPA1):c.1490A>C (p.Asp497Ala) rs1064795743
NM_130837.3(OPA1):c.1498C>T (p.Arg500Cys)
NM_130837.3(OPA1):c.1499G>A (p.Arg500His) rs80356529
NM_130837.3(OPA1):c.1549A>C (p.Thr517Pro) rs1553878117
NM_130837.3(OPA1):c.1590T>A (p.Asn530Lys) rs863224137
NM_130837.3(OPA1):c.1609-294G>A rs140947578
NM_130837.3(OPA1):c.1639C>A (p.Pro547Thr) rs2109057610
NM_130837.3(OPA1):c.1681+1G>C rs886041318
NM_130837.3(OPA1):c.1681+1G>T rs886041318
NM_130837.3(OPA1):c.1681+3A>G rs1553878573
NM_130837.3(OPA1):c.1715A>T (p.Glu572Val)
NM_130837.3(OPA1):c.1737G>C (p.Gln579His) rs538099724
NM_130837.3(OPA1):c.1754+270_1754+273del rs71637116
NM_130837.3(OPA1):c.182A>G (p.Gln61Arg) rs558532319
NM_130837.3(OPA1):c.1871-19A>C rs1057522968
NM_130837.3(OPA1):c.1935+177_1935+180del rs146802653
NM_130837.3(OPA1):c.1935+3A>G rs398124300
NM_130837.3(OPA1):c.1935+51T>G rs9831900
NM_130837.3(OPA1):c.1936-21_1936-18del rs765277368
NM_130837.3(OPA1):c.193C>G (p.Leu65Val)
NM_130837.3(OPA1):c.1985G>A (p.Ser662Asn) rs2109083949
NM_130837.3(OPA1):c.1996G>A (p.Val666Ile) rs200756304
NM_130837.3(OPA1):c.1A>T (p.Met1Leu)
NM_130837.3(OPA1):c.2012+1G>C rs863224134
NM_130837.3(OPA1):c.2012+1G>T rs863224134
NM_130837.3(OPA1):c.2013-10_2013-8del rs781060459
NM_130837.3(OPA1):c.2046_2047del (p.Arg682fs)
NM_130837.3(OPA1):c.2057A>G (p.His686Arg)
NM_130837.3(OPA1):c.2084C>T (p.Ala695Val) rs2109139144
NM_130837.3(OPA1):c.2097G>A (p.Met699Ile)
NM_130837.3(OPA1):c.2132A>C (p.Lys711Thr) rs2109139390
NM_130837.3(OPA1):c.2143T>C (p.Trp715Arg) rs1553881180
NM_130837.3(OPA1):c.2149G>T (p.Asp717Tyr) rs1379001496
NM_130837.3(OPA1):c.2263_2268del (p.Leu755_Lys756del) rs755591067
NM_130837.3(OPA1):c.2287del (p.Ser763fs) rs1219753329
NM_130837.3(OPA1):c.2296C>T (p.Arg766Ter) rs863224906
NM_130837.3(OPA1):c.22G>T (p.Ala8Ser) rs794726939
NM_130837.3(OPA1):c.2303A>G (p.Lys768Arg) rs2109164239
NM_130837.3(OPA1):c.2362C>T (p.Arg788Ter) rs1553784985
NM_130837.3(OPA1):c.2395G>A (p.Ala799Thr) rs2109186848
NM_130837.3(OPA1):c.2441-13T>A rs773828534
NM_130837.3(OPA1):c.2502G>T (p.Lys834Asn) rs2109193504
NM_130837.3(OPA1):c.2520+4G>A rs1577307342
NM_130837.3(OPA1):c.2521-155del rs3214982
NM_130837.3(OPA1):c.2569A>G (p.Asn857Asp) rs2109231506
NM_130837.3(OPA1):c.2661+1G>T rs794727392
NM_130837.3(OPA1):c.2661+4A>C
NM_130837.3(OPA1):c.2661+4_2661+5delinsGTAAC rs863224143
NM_130837.3(OPA1):c.272C>G (p.Ala91Gly) rs1085307621
NM_130837.3(OPA1):c.2734C>T (p.Arg912Ter) rs794727405
NM_130837.3(OPA1):c.2778+279_2778+280insAGTAA rs60242040
NM_130837.3(OPA1):c.2779-112A>G rs10804957
NM_130837.3(OPA1):c.2840A>C (p.Asn947Thr) rs750518068
NM_130837.3(OPA1):c.2873-10C>G rs2109277041
NM_130837.3(OPA1):c.2873-2A>G rs886041438
NM_130837.3(OPA1):c.2873_2876del rs80356530
NM_130837.3(OPA1):c.2885A>G (p.Glu962Gly) rs863224138
NM_130837.3(OPA1):c.2892_2896del (p.Asn964fs) rs1553787992
NM_130837.3(OPA1):c.2902G>A (p.Val968Ile) rs863224139
NM_130837.3(OPA1):c.2902G>T (p.Val968Leu) rs863224139
NM_130837.3(OPA1):c.2973G>C (p.Ala991=) rs117475774
NM_130837.3(OPA1):c.2984-1_2986del rs2109460398
NM_130837.3(OPA1):c.2990_2993del (p.Val997fs) rs879255560
NM_130837.3(OPA1):c.3040G>C (p.Glu1014Gln) rs2109460771
NM_130837.3(OPA1):c.305A>C (p.Tyr102Ser) rs530896300
NM_130837.3(OPA1):c.33-91TG[4] rs58340380
NM_130837.3(OPA1):c.351+228dup rs111333949
NM_130837.3(OPA1):c.351+78G>A rs113990764
NM_130837.3(OPA1):c.417T>G (p.Ile139Met) rs1446797783
NM_130837.3(OPA1):c.418G>A (p.Val140Met)
NM_130837.3(OPA1):c.442G>A (p.Asp148Asn)
NM_130837.3(OPA1):c.446T>G (p.Phe149Cys) rs2108869401
NM_130837.3(OPA1):c.516T>G (p.Ile172Met) rs863224126
NM_130837.3(OPA1):c.531_533delinsATA (p.Ser177_Leu178delinsArgTer) rs863224141
NM_130837.3(OPA1):c.576A>T (p.Glu192Asp) rs2108882278
NM_130837.3(OPA1):c.611-19T>C rs3772393
NM_130837.3(OPA1):c.679-301dup rs35044042
NM_130837.3(OPA1):c.679-7G>T rs373326620
NM_130837.3(OPA1):c.696C>T (p.Leu232=) rs375209295
NM_130837.3(OPA1):c.712C>G (p.Gln238Glu) rs1131691832
NM_130837.3(OPA1):c.722A>G (p.Glu241Gly)
NM_130837.3(OPA1):c.739C>T (p.Arg247Cys)
NM_130837.3(OPA1):c.785G>A (p.Arg262His) rs201202646
NM_130837.3(OPA1):c.789+27G>C rs151279038
NM_130837.3(OPA1):c.794C>T (p.Ser265Leu) rs1553875179
NM_130837.3(OPA1):c.800_801del (p.Lys267fs) rs794727804
NM_130837.3(OPA1):c.804_805del (p.Lys269fs) rs863224142
NM_130837.3(OPA1):c.852T>G (p.Tyr284Ter) rs863224128
NM_130837.3(OPA1):c.949-12_949-11insTA rs544490050
NM_130837.3(OPA1):c.959_962del (p.Ile320fs) rs1064794208

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